Pure quadriceps myopathy in two sisters
| Autor: | G. Marconi, Ibrahim Mahjneh, Hannu Somer, Anders Paetau |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
0303 health sciences
medicine.medical_specialty Weakness Pathology Muscle biopsy Autosomal recessive inheritance medicine.diagnostic_test business.industry THIGH MUSCLE WEAKNESS Electromyography medicine.disease 03 medical and health sciences 0302 clinical medicine Endocrinology Neurology Internal medicine Normal creatine medicine Neurology (clinical) Muscular dystrophy medicine.symptom Myopathy business 030217 neurology & neurosurgery 030304 developmental biology |
| Zdroj: | European Journal of Neurology. 10:453-456 |
| ISSN: | 1351-5101 |
| DOI: | 10.1046/j.1468-1331.2003.00616.x |
| Popis: | The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow-up study of 18-21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow-up study, the patients showed only vasti muscles involvement, normal creatine kinase (CK) levels, myopathic muscle biopsy and electromyography (EMG) and normal membrane protein expression on immunocytochemical analysis. Therefore, all muscle pathologies known to have quadriceps involvement as a leading feature have been ruled out. We conclude that our patients have pure QM with probable autosomal recessive inheritance. |
| Databáze: | OpenAIRE |
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